BioBlast Is Developing an OPMD Drug

Israeli biotechnology company BioBlast is developing and testing Cabaletta, designed to counteract abnormal clumping of cellular proteins in oculopharnyngeal muscular dystrophy (OPMD)

Article Highlights:
  • A phase 2-3 trial of Cabaletta in adults with OPMD is underway in Jerusalem and Montreal; a U.S. site is planned.
  • A multicenter study of the natural history (usual course) of OPMD is slated to open soon.
by Margaret Wahl on November 18, 2014 - 10:00am

Update (March 17, 2015): In a March 12, 2015, press release, BioBlast announced it will open a site for the Cabaletta in OPMD study in California during the second quarter of 2015.

Israeli biotechnology company BioBlast Pharma is developing an experimental drug designed to treat oculopharyngeal muscular dystrophy (OPMD) and is testing it in a phase 2-3 clinical trial at sites in Jerusalem and Montreal. If the U.S. Food and Drug Administration (FDA) approves the proposal, the company plans to open a trial site in the Los Angeles area of the U.S. as soon as possible and to open a multicenter study of the natural history (usual course) of OPMD.

BioBlast's experimental OPMD drug, known as Cabaletta, is a chemical "chaperone," a type of molecule that helps prevent abnormal aggregation (clumping) of misfolded proteins and enhances autophagy ("self-digestion") to clear abnormally accumulating proteins. The active ingredient in Cabaletta is a sugar molecule called trehalose. The drug is given by intravenous infusion.

In OPMD, an expanded section of DNA in the gene for the PABPN1 protein leads to longer-than-normal PABPN1 protein molecules, which can result in potentially toxic protein clumps in muscle cells and in muscle weakness. Weakness is most prominent in the muscles that keep the eyes open and in those controlling swallowing, although other muscles can also be affected. In laboratory animals, Cabaletta appears to prevent abnormal aggregation of proteins inside cells and improve muscle power.

In a Sept. 17, 2014, press release, BioBlast announced encouraging interim results from the first 11 patients in the Cabaletta trial.

"We believe that these results validate the effectiveness of our Cabaletta formulation and method of administration in delivering our drug into muscle cells for prolonged periods of time," said BioBlast CEO Dalia Megiddo. "The human ... results are consistent with the preclinical data and altogether deepen our understanding of the pharmacokinetics [how a drug is handled by the body] of Cabaletta and our ability to direct it to human tissues. The lack of any drug-related adverse events in the patients analyzed ... is yet an additional reassurance as we move forward with our clinical program."

About the Cabaletta trial

Participants in BioBlast's trial of Cabaletta will receive 24 weekly intravenous infusions of the drug at increasing doses. The infusions must be started at one of the trial sites but can often be continued in or near the patient's home.

After the first 24 weeks (six months), two-thirds of participants will be randomly assigned to continue Cabaletta infusions for an additional year, and one-third will be assigned to a control group that will not receive the drug. (If the trial results for Cabaletta are positive, all participants will eventually be eligible to receive the medication.)

The investigators will be analyzing tests of general muscle function and will evaluate specialized test of swallowing at intervals. In addition, a needle biopsy of the thigh muscle will be required.

Prospective participants in the phase 2 trial of Cabaletta must

  • be 18 to 80 years old;
  • have a clinical and genetic diagnosis of OPMD;
  • have moderate difficulty swallowing (verified by an abnormal drinking test); and
  • have a body mass index (BMI) of less than 30.

Prospective participants must not

  • have type 1 or type 2 diabetes;
  • have uncontrolled heart disease;
  • have any other neuromuscular disease or other serious disease;
  • have any disorder that affects swallowing;
  • have undergone a procedure to improve swallowing function;
  • have a body mass index (BMI) of 30 or more;
  • have lost more than 10 percent of their weight in the last year; or
  • be pregnant or breastfeeding.

(Note: This is not a complete list of criteria.)

To participate

For details and contact information on the trial of Cabaletta in OPMD, see Safety, Tolerability and Efficacy Study of Cabaletta to Treat Oculopharyngeal Muscular Dystrophy Patients, or enter NCT02015481 in the search box at

For more information

To learn more about OPMD, see In Focus: Oculopharyngeal Muscular Dystrophy (OPMD), Quest, October 2009.

For more about Cabaletta and other drugs in development by BioBlast, see Platforms on the BioBlast site See also For Patients/OPMD on the same site.

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